NM_006172.4(NPPA):c.277_278del (p.Asp93fs) AND Atrial fibrillation, familial, 6

Clinical significance:Uncertain significance (Last evaluated: Aug 14, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000646144.6

Allele description [Variation Report for NM_006172.4(NPPA):c.277_278del (p.Asp93fs)]

NM_006172.4(NPPA):c.277_278del (p.Asp93fs)

Genes:
NPPA-AS1:NPPA antisense RNA 1 [Gene - HGNC]
LOC114827827:VISTA enhancer hs2123 [Gene]
NPPA:natriuretic peptide A [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_006172.4(NPPA):c.277_278del (p.Asp93fs)
HGVS:
  • NC_000001.11:g.11847286CT[2]
  • NG_012926.1:g.5494GA[2]
  • NG_065183.1:g.568CT[2]
  • NM_006172.4:c.277_278delMANE SELECT
  • NP_006163.1:p.Asp93fs
  • LRG_751t1:c.277_278del
  • LRG_751:g.5494GA[2]
  • NC_000001.10:g.11907342_11907343del
  • NC_000001.10:g.11907343CT[2]
  • NM_006172.3:c.277_278del
  • NM_006172.3:c.277_278delGA
Protein change:
D93fs
Links:
dbSNP: rs774165756
NCBI 1000 Genomes Browser:
rs774165756
Molecular consequence:
  • NM_006172.4:c.277_278del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Atrial fibrillation, familial, 6 (ATFB6)
Identifiers:
MONDO: MONDO:0012816; MedGen: C2677294; OMIM: 612201

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000767901Invitaecriteria provided, single submitter
Uncertain significance
(Aug 14, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000767901.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change creates a premature translational stop signal (p.Asp93Trpfs*13) in the NPPA gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs774165756, ExAC 0.04%). This variant has not been reported in the literature in individuals with NPPA-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in NPPA cause disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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